Sophia Genetics Whole Exome Solution

Sophia Genetics has released a new version of Sophia Whole Exome Solution, which the company said reduces turnaround time for analysis of whole-exome sequences. The updated Sophia WES now features detection of copy-number variations at a resolution of two to five exons without the need for a reference sample. The product also supports analysis of variants in familial trios to filter variants based on different inheritance modes.